A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511101



Internal ID15478595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:150464867..150566581hg38UCSC Ensembl
Outerchr3:150182654..150284368hg19UCSC Ensembl
Outerchr3:151665344..151767058hg18UCSC Ensembl
Outerchr3:151665352..151767066hg17UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38101715
hg19101715
hg18101715
hg17101715
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618604
SamplesCHM
Known GenesEIF2A, SERP1
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv511101
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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